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Biotinidase Deficiency

Medical information you need to know as an independent adult with a biotinidase deficiency

Overview of the Condition:
This is a genetic problem that causes the body to not be able to breakdown and process a vitamin called biotin.

PDF Click here for a printable PDF version of this guide.

Medical Problems for Babies and Children:

  • Symptoms of this condition in babies and children include seizures, loss of hair, learning problems and developmental problems, hearing loss, and skin rashes
  • If the condition is not found when a baby is born and not treated, kids may experience any or all of these problems

Medical Problems for Teens and Young Adults:

  • To avoid developing these problems, teens and young adults must take biotin as prescribed by a doctor
  • Some females reported losing their hair but this was fixed by increased doses of biotin as prescribed by their metabolic doctors
  • Adults are at risk for developing the symptoms if they do not maintain good levels of biotin in their blood
  • Some adults may have less-serious forms of this condition and they may experience weak muscles or skin rashes during times of stress

How to Avoid Medical Problems and Complications:

  • Take supplements of biotin as prescribed by a doctor, usually 5 to 10mg per day
  • Avoid raw eggs
  • Schedule regular eye-sight and hearing check ups

Pregnancy and Other Medical Events:
 Most medical experts believe that fertility is not affected in men and women who take their medications and stick to special diets.

What Next?
Now you can fill out the Medical Health Summary, and store it on a USB jump drive, or print and save it.  This will help you keep important medical information in one place.

PDF Click here for a printable PDF version of this guide.

Resources:
Genetics Home Reference: http://ghr.nlm.nih.gov/condition=biotinidasedeficiency
Biotinidase Deficiency Family Support Group: http://biotinidasedeficiency.20m.com/

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